Aqueductal stenosis in X-linked hydrocephalus: a secondary phenomenon? / P. LANDRIEU in Developmental Medicine & Child Neurology, 21-5 (October 1979)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 21-5 (October 1979) . - p.637-642 Titre : Aqueductal stenosis in X-linked hydrocephalus: a secondary phenomenon? Type de document : Texte imprimé et/ou numérique Auteurs : P. LANDRIEU, Auteur ; Gilles LYON, Auteur ; J. NINANE, Auteur ; G. FERRIERE, Auteur Année de publication : 1979 Article en page(s) : p.637-642 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Two cases of x-linked hydrocephalus are reported. One underwent postmortem examination: serial sections of the brain stem failed to show stenosis of the aqueduct, the mean and minimal cross-sectional areas of which were normal. However, there were some morphological changes which were compatible with a mechanical compression of the brain stem. It is postulated that in the Bickers and Adams syndrome of x-linked hereditary hydrocephalus the primary defect is a communicating hydrocephalus leading usually, but not always, to aqueductal stenosis. The importance of electrophysiological investigations for the correct diagnosis of the characteristic clasped-thumb deformity is also indicated. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500 [article] Aqueductal stenosis in X-linked hydrocephalus: a secondary phenomenon? [Texte imprimé et/ou numérique] / P. LANDRIEU, Auteur ; Gilles LYON, Auteur ; J. NINANE, Auteur ; G. FERRIERE, Auteur . - 1979 . - p.637-642. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 21-5 (October 1979) . - p.637-642 Index. décimale : PER Périodiques Résumé : Two cases of x-linked hydrocephalus are reported. One underwent postmortem examination: serial sections of the brain stem failed to show stenosis of the aqueduct, the mean and minimal cross-sectional areas of which were normal. However, there were some morphological changes which were compatible with a mechanical compression of the brain stem. It is postulated that in the Bickers and Adams syndrome of x-linked hereditary hydrocephalus the primary defect is a communicating hydrocephalus leading usually, but not always, to aqueductal stenosis. The importance of electrophysiological investigations for the correct diagnosis of the characteristic clasped-thumb deformity is also indicated. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500

Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve / F. GUZZETTA in Developmental Medicine & Child Neurology, 28-1 (February 1986)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 28-1 (February 1986) . - p.62-68 Titre : Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve Type de document : Texte imprimé et/ou numérique Auteurs : F. GUZZETTA, Auteur ; G. FERRIERE, Auteur ; G. TORTORELLA, Auteur ; E. CARDIA, Auteur Année de publication : 1986 Article en page(s) : p.62-68 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : A case of typical familial dysautonomia (HSN, type III) in a non-Jewish girl is reported. The number of unmyelinated fibres was found to be reduced and sural nerve biopsy showed evidence of past axonal degeneration. There was also marked endoneurial fibrosis and a lack of the largest myelinated fibres. Signs of histological progression not yet described in the sural nerve and other clinical and morphological features could be explained by different penetrance degrees of the disease. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=610 [article] Familial dysautonomia in a non-Jewish girl, with histological evidence of progression in the sural nerve [Texte imprimé et/ou numérique] / F. GUZZETTA, Auteur ; G. FERRIERE, Auteur ; G. TORTORELLA, Auteur ; E. CARDIA, Auteur . - 1986 . - p.62-68. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 28-1 (February 1986) . - p.62-68 Index. décimale : PER Périodiques Résumé : A case of typical familial dysautonomia (HSN, type III) in a non-Jewish girl is reported. The number of unmyelinated fibres was found to be reduced and sural nerve biopsy showed evidence of past axonal degeneration. There was also marked endoneurial fibrosis and a lack of the largest myelinated fibres. Signs of histological progression not yet described in the sural nerve and other clinical and morphological features could be explained by different penetrance degrees of the disease. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=610

---

1 (1 - 2 / 2)